MURAYAMA KEI 村山圭

Researcher Number	50316741
Other IDs
Affiliation (Current)	2025: 順天堂大学, 大学院医学研究科, 教授
Affiliation (based on the past Project Information) *help	2023 – 2025: 順天堂大学, 大学院医学研究科, 教授
Review Section/Research Field	Except Principal Investigator Medium-sized Section 52:General internal medicine and related fields
Keywords	Except Principal Investigator シングルセル / マルチオミックス解析 / ヘテロプラスミー率 / ゲノム解析 / 心筋症 / ミトコンドリアDNA / オミックス解析 / メタボローム解析 / ヘテロプラスミー / シングルセル解析 / 多階層オミックス統合解析 / ミトコンドリア病

Establishment of multi-layered omics analysis for mitochondrial disease patients
- Principal Investigator
  
  岡崎康司
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Juntendo University

All 2024 2023

All Journal Article

[Journal Article] Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene2024
- Author(s)
  Borna Nurun Nahar、Kishita Yoshihito、Shimura Masaru、Murayama Kei、Ohtake Akira、Okazaki Yasushi
- Journal Title
  
  Mitochondrion
  
  Volume: 76 Pages: 101858-101858
- DOI
  10.1016/j.mito.2024.101858
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23H00424
[Journal Article] Strategic validation of variants of uncertain significance in ECHS1 genetic testing2023
- Author(s)
  Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R Nitta, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: Online ahead of print Issue: 10 Pages: 1006-1015
- DOI
  10.1136/jmg-2022-109027
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-23K07236, KAKENHI-PROJECT-23K07488, KAKENHI-PROJECT-23H00424
[Journal Article] Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report2023
- Author(s)
  Naganuma Tsukasa、Imasawa Toshiyuki、Nukui Ikuo、Wakasugi Masakiyo、Kitamura Hiroshi、Yatsuka Yukiko、Kishita Yoshihito、Okazaki Yasushi、Murayama Kei、Jinguji Yoshimi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 35 Pages: 100963-100963
- DOI
  10.1016/j.ymgmr.2023.100963
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23H00424
[Journal Article] ミトコンドリア病の遺伝子診断と病態解析2023
- Author(s)
  杉山洋平, 八塚由紀子, 村山圭, 岡﨑康司
- Journal Title
  
  実験医学増刊
  
  Volume: 41 Pages: 706-712
- Data Source
  KAKENHI-PROJECT-23H00424

1. 岡崎康司 (80280733)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
2. 奥田修二郎 (00512310)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. 木下善仁 (20634398)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
4. 松本浩 (00536229)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 大竹明 (00203810)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
6. 八塚由紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

MURAYAMA KEI 村山圭

Research Projects

Research Products

Co-Researchers

Establishment of multi-layered omics analysis for mitochondrial disease patients

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Strategic validation of variants of uncertain significance in ECHS1 genetic testing2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] ミトコンドリア病の遺伝子診断と病態解析2023

Author(s)

Journal Title

Data Source

MURAYAMA KEI 村山 圭

Research Projects

Research Products

Co-Researchers

Establishment of multi-layered omics analysis for mitochondrial disease patients

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Strategic validation of variants of uncertain significance in ECHS1 genetic testing2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] ミトコンドリア病の遺伝子診断と病態解析2023

Author(s)

Journal Title

Data Source

MURAYAMA KEI 村山圭